Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 145C, Issue 2, Pages 158-171Publisher
WILEY
DOI: 10.1002/ajmg.c.30126
Keywords
congenital diaphragmatic hernia; Bochdalek hernia; Morgagni hernia; classification; mortality; epidemiology; isolated CDH; syndromic CDH; genetic syndromes; multiplex families; chromosome abnormalities
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Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. (C) 2007 Wiley-Liss, Inc.
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